Help for families without a diagnosis

Hi I'm Lauren, I work for Genetic Alliance UK running the SWAN UK project. SWAN stands for Syndromes Without A Name. We offer information and support to families of children with undiagnosed genetic conditions.

I'm here to help with any questions you might have about the issues you face when your child has a suspected genetic syndrome but the Doctors haven't been able to tell you what it is. I can put you in contact with other families in a similar situation, help with information about how to get a referral to see a geneticist or about research studies that your child might have been invited to take part in. I look forward to talking to you!

Replies

My son is 9 and has been seen by a geneticist: he does not have a diagnosis, but more a description (severe learning disabilities with autistic features). The geneticist has established that there is no physical marker to indicate a specific syndrome and has asked that the next time he has a surgical procedure done that blood should be taken to do an array of genetic testing on (he's already had the usual ones). So in that sense I feel I am as well on top of things as can be expected. The geneticist has said that his condition is probably genetic in origin, presumably as there is no other indication that it isn't. My problem comes with the lack of a diagnosis, and my own feeling that so far his assessments have not done much other than to rule out ASD (but he is very 'autistic' in his behaviour--he does not speak or communicate but is quite clever on the computer for example). I am concerned with the practical implications of not having a diagnosis, or having a vague one that doesn't really cover it. His paeditrician and I have discussed having a fuller assessment in the medium-longer term (he is changing quite a bit now so I don't mind waiting, and my concerns are mainly about the future not the present as he is so well looked after and supported at school). I find it difficult to not have a diagnosis--it is isolating and confusing, and I'm not sure what to expect in the longer term. The paediatrician isn't really able to suggest where I might find further reading, and most things I read about learning disabilites don't really describe him (autistic ones do, but as I say the paediatric neurologist has ruled him out of the Autism spectrum as he is so clever at socialising. Which he is!). What sorts of supports are there for people who do not have (will never have?) a diagnosis?

It sounds like you have just described my daughter in some aspects. She has learning difficulties too with no speech. She was born with a bi-lateral cleft lip and palate and to get any sort of blood, well, like getting blood out of a stone. Her veins are so small they have to use neo natal needles! She has been labelled with SWAN. Very difficult to described to those who are not medical professionals! I just wanted to say I feel exactly the same and it is very difficult. My daughter just had an ICT Assesment at school today and have told us that they do not supply a touch screen laptop to help with speech, choice making and learning etc at home. they can supply a touch screen monitor to the school on a loan basis, but should I wish to help and encourage her at home, during the holidays or weekends, as she needs this input during her time off or she will and has proved in the past reluctant to restart when the schools go back! the answer is no. Touch screen laptops are expensive approx £600+. Does anybody know of any charities that might be able to part fund? Really stuck!

Valix1 - it would be good if you started a new thread in the main netbuddy forum. Sure you will get lots more advice there about funding for touch screen. Lots more people will see it and be able to help. Thanks!

Hi both, thanks for your messages. The situations you describe sound very similar to those of many of the members of SWAN UK, it can be really difficult not having the right 'label'.In terms of accessing support, it shouldn't make any difference whether you have a diagnosis or not - assessments for support should be based on your child's needs although in reality it is often more difficult to get through the first stages without a simple way to describe your child's difficulties. Some families have found it helpful to get their consultant to write a letter outlining their child's difficulties that they can then use to confirm their needs.In terms of more general support, the project I work for (SWAN UK) is specifically for parents of children with undiagnosed conditions. We have a growing community of families who support each other through the various issues raised by having an undiagnosed child - as you both know it's really hard when you have no sense of what the future might hold. Lots of our members find that it can be really helpful / comforting to be able to talk to others in the same situation. Although all the children are different it can be helpful to talk to parents of older undiagnosed children and seeing everything that they are achieving. If you are interested in joining you can find our Facebook group here https://www.facebook.com/groups/205554229483224/, I know you would be very welcome!Many of our members also contribute to our blog (or write their own) you might find helpful to read other families stories - it's surprising how often we get families discovering how similar their children are and then being able to share tips and ideas. www.swanuk.wordpress.com.

Lauren, thanks very much! I should stress that we're as well supported as possible at the moment: the primary school is wonderful and we have regular meetings with various experts including one advising us on electronic communication aids (which don't at the moment work very well with my son as he persists in thinking they are computers and should give him access to Cbeebies games etc). I'm more looking to the future, as well as needing to understand as much as possible about my son, so that I can help the people who have dealings with him (especially doctors etc) really understand what to expect from him and how to help him when he is almost completely uncommunicative. I've sent a request to join the facebook group--it would be very nice to hear about others' experiences and just to share,

even if you get agenetic diagnosis it is important to get certain lables for education etc. so for example, ask for the ADOS autism diagnostic observation schedule to be done to rule in or out an autism diagnosis. (great test, no speech required!) in some ways, it was fortunate that my son had the ADOS while genetically undiagnosed and therefore was diagnosed ASD (and got place in fantastic ASd school) tho later age 13 (2 years ago) got cgh array done and microdeletion diagnosis.ASd feaures are common with his microdeletion yet if we had had the genetic diagnosis earlier it might have been harder to get the ASd diagnosis iyswim... he ASD diagnosis (describing how he is and how he learns/acts) has been the most useful, in reality; tho is nice to know the underlying genetics....

also you can get comorbid diagnosies -so some children with down syndome may also get ASD diagnosis thru correct ASD diagnostic tools.

genetic diagnosis is useful but there is always a range of ability and you still need to go by the child's individual abilities/strengths/weaknesses . not jsut put it all down to "oh he has that diagnosis".

it is important to recognize strengths eg computers and use them for communication and learning

ps karen my son at school has an ipad which ONLY has access to his communication software so no chance of him accessing cbeebies or youtube on it - he has to request and then gets time on school desk top. behavioural approach.

Natashailg: that's very very interesting... we had an autism 'assessment' which was an hour-long question and answer session with a paediatric neurologist and the conclusion was that my son showed autistic features but should not be placed on the spectrum, even as wide as the spectrum is. I don't agree and I am pursuing a more thorough diagnosis although from the look of the ADOS test he just wouldn't do any of the required tasks even a bit, My interest is purely practical in that I need to access services in the future, and autism strategies fit him best. His frustration with the electonic communication device was that it looked like a computer (and it did!) but would not do what he expected it to do, and he could not accept that while it looked like a computer it wasn't for the same purpose. So now we;'re trying various ones that don't look like computers (but aren't as sophisticated). Overall he isn't very impressed and my own feeling is that signing will work better. But we're giving everything a chance. He's supposed to have emergency dental surgery next week (if his cough goes away) and then we will have an opportunity to take blood (can't do it except under sedation) for array CGH test by the genetics service. But I'm very interested to hear about the implications for your son with and without the genetic diagnosis. It certainly gives me a lot to think about in terms of where I go next.

@Karen - Glad to hear are being well supported, having a good team of professionals that work with you makes such a difference. I'll check the FB group now and add you - there are other parents who also have children who have features of ASD but not a f

yes i am very happy to have the diagnosis, tho it was also shocking as my son is on the severe end of spectrum in terms of abiltiies - others i have met with his deletion are much higher functioning, have speech, will be semi independent etc. otoh he doesnt have medical needs like epilepsy. karen the ADOS test will pick up where he doesnt perform - it looks at things like joint attention which very young babies will do - but no if ASD...

Lauren, natashailg, thanks so much for the advice and help. As you know I'm now on the SWAN facebook group and it is so wonderful and helpful and supportive. We've moved ahead with trying to get a diagnosis (have taken blood for microarray test but then find that it won't be done for years as they aren't funded in Wales, but now are going to give samples for the DDD study which I hope might provide answers in addition to whatever the mircroarray test would have done. It is a long road, and I'm still trying to pursue an autism assessment as well because as you say it can probably tell me more in practical terms than the genetic tests will! again thanks so much and if anyone is reading this please do consider joining the SWAN family--it is wonderful!

@karen - I'm so pleased you joined and are enjoying the group! If you have any questions about the DDD study (Deciphering Developmental Disorders) do let me know as we have a really good relationship with the project team who are always keen to keep famil

I am a newbie, My son is 9 years old and going throught the process of assessment/diagnosis. He has already been assessed by OT who confirm dyspraxia. The neuro clinic he just started attending plan to do a cognative assessment and an ADOS assessment. I have had to take a break from full time uni and I am now on my second gap year in order to support my son through the diagnosis process.I spend everyday at home cleaning the house weekly, my partner works full time. I am totally lost. I have lost my sense of identity. I do not have a job, and I do not claim Job seekers allowance. The reason for this is that my son suffers from severe seperation anxiety and cannot handle change. If i claim job seekers allowance I will be put under pressure to get a job, and I am already under enough pressure with 'fighting'the system, the schools, the nhs, to get him diagnosed. I have taken this labour of love on to the point that it is affecting the relationship I have with my partner. I have lost my way in terms of how to parent my son, and often argue with my partner over parenting skills. I feel like I have been told to wait in the waiting room and put my entire life on hold!! I feel useless, my self esteem and self worth is shot in all capacities, as a mother, as a girlfriend, as a woman! I need help, I need support and I have no idea what to do!

Hi @velmakelly, it sounds like you have lots on your plate right now and it's really good you have posted so you can start making contact with others and accessing the support you need.

Netbuddy is a great place to start, join in the forums and start talking to other parents who are in similar situations to you - there is a thriving online community of parents of children with special needs and hopefully by linking in with these you can start to feel less alone.

You might also want to check out some of the Facebook groups that exist as many parents tell me that joining these have made a significant impact on their lives. Depending on the group it may be open or closed - for some families they prefer closed groups as they feel they can then post more openly about what is going on in their lives.

It might also be worth getting in touch with The National Autistic Society (http://www.autism.org.uk/) and the Dyspraxia foundation (http://www.dyspraxiafoundation.org.uk/) to see if they can offer you some specific advice about dealing with your son's difficulties and put you in touch with other parents in the same situation.

If he was eligible you may then be able to access Carers Allowance (depending on the rate of DLA he was awarded). It's always worth getting support to apply for DLA as it's a very long form and can be quite upsetting filling it out, try getting in touch with your local citizens advice bureau to see if they can help. https://www.gov.uk/carers-allowance/overview

It sounds like you could really benefit from getting out of the house sometimes, have you looked into whether there are any support organisations / groups in your local area for parents of children with additional needs? It might seem a bit daunting at first but hopefully will help you to access sympathetic support and information.

I'll stop there for now as I've just thrown quite a lot of information at you! Feel free to come back to me with more questions or if you need more information.

As hard as it seems, try and take some time for yourself - even if it's just for 15 mins to have a bath or something. It sounds like you are doing a brilliant job looking out for your son and I really hope you find that your bravery in posting here is the first step to getting some support for you too.

Evening all I could really do with some help! My son is 2 years 7 months, born at 10lb 3oz he has always been floppy suffers with really flexible joints and hypotonia! He's currently under the children's centre at my local hospital undergoing various assessments for asd and hypermobility syndrome! Last 6 months he's become obsessed by food! Never seems full up, constantly asks for biscuits or cake! Added to the fact he is yet to walk has poor social skills and imaginative play! My cousin suggested prader Willi syndrome and would love someone to share any similar probs or have children with this diagnosis! Help!! X

@Becky4 - have you got in touch with the Prada Willi association? even if your child doesn't have this syndrome it might be useful, they have loads of information on their website about managing demands for food etc - http://www.pwsa.co.uk.We know a few

What is this booklet about?There are some children who have learning difficulties or healthproblems, and no-one can explain the cause of these problems.If you are the parent of a child without a diagnosis, thisinformation booklet has been written for you. It is designed tohelp answer some of the questions you may have. We also giveyou some ideas of helpful things you might do as a parent andtalk about some of the experiences other parents have had.Unfortunately, it wonâ€Ÿt be able to give you a diagnosis for yourchild."We have got no diagnosis, she is just Lisa, she is just unique.But to be honest with you, we get so much enjoyment out of herit totally outweighs any problems."

@velmakelly I hope things have eased a bit now--being a carer can be a very very dark place, and it does really help to share. There is quite a bit of support available on the internet (some more helpful than others!) and feeling you're not alone, is a v

Hi. My son has a genetic disorder. X linked human sterial sulphatase deficency. But no1 knows if it can cause leanring difficulties or other things. My son is 7yrs old. And he is displaying alot of symptoms of adhd or other learning difficulties. My brother had this same thing and was dislexic dispraxic. Adhd. Etc cud u possibly help me on my equiry. .everyone is just denying any link to these things and knows nothing of his blood disorder.

Andria, it sounds as if you might benefit from joining SWAN--it is a large group of families with a very large range of unidentified, or partly identified but rare or not well understood genetic conditions, and there is a lot of help and support on offer. Lauren has posted various links to SWAN things elsewhere in this forum--this is how I came to SWAN and although no one can make a diagnosis happen, having advice and support from others who are in a similar boat is really really helpful.